### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CYP2U1) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "CYP2U1" "cytochrome P450, family 2, subfamily U, polypeptide 1" "4" "q25" "unknown" "NG_007961.1" "UD_132118283194" "" "https://www.LOVD.nl/CYP2U1" "" "1" "20582" "113612" "610670" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CYP2U1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-10-07 23:49:46" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00006011" "CYP2U1" "cytochrome P450, family 2, subfamily U, polypeptide 1" "001" "NM_183075.2" "" "NP_898898.1" "" "" "" "-83" "4669" "1635" "108852717" "108874613" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "03811" "SPG56" "paraplegia, spastic, type 56, autosomal recessive (SPG-56)" "AR" "615030" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05412" "maculopathy" "maculopathy" "" "" "" "" "" "00006" "2018-03-23 12:21:26" "" "" "05534" "mitochondrial" "mitochondrial disorder" "" "" "" "maternal mitochondrial" "" "00006" "2018-12-22 14:29:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CYP2U1" "03811" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00080879" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00131878" "" "" "" "1" "" "02260" "Durand et al., in revision" "" "M" "yes" "Turkey" ">12y" "0" "" "" "" "Case 1" "00131884" "" "" "" "1" "" "02260" "Durand et al., in revision" "" "M" "no" "Italy" "08y" "0" "" "" "" "Case 2" "00295759" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00361515" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "10DG0886" "00408395" "" "" "" "1" "" "03468" "" "" "" "" "" "" "" "" "" "" "" "00415252" "" "" "" "1" "" "00000" "{PMID:Alfares 2018:30202406}" "" "M" "" "" "" "0" "" "" "" "7" "00448056" "" "" "" "1" "" "01164" "" "" "M" "likely" "? (unknown)" "" "0" "" "" "" "274491" "00454720" "" "" "" "1" "" "00095" "{PMID:Legati 2016:26968897}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "NGSP65" "00466506" "" "" "" "1" "" "00006" "{PMID:Saneto 2022:35775081}, {DOI:Saneto 2022:10.3389/fmolb.2022.908721}" "" "M" "" "United States" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00080879" "03811" "00131878" "03811" "00131884" "03811" "00295759" "00198" "00361515" "00139" "00408395" "05412" "00415252" "04214" "00448056" "03811" "00454720" "05534" "00466506" "00325" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00325, 03811, 04214, 05412, 05534 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000060448" "03811" "00080879" "01758" "Familial, autosomal recessive" "" "Spastic paraplegia 56, autosomal recessive (OMIM:615030)" "" "" "" "" "" "" "" "" "" "" "" "0000104229" "03811" "00131878" "02260" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223277" "00198" "00295759" "01164" "Unknown" "" "Spastic paraparesis (HP:0002313); Abnormal muscle tone (HP:0003808)" "" "" "" "" "" "" "" "" "" "" "" "0000256920" "00139" "00361515" "00006" "Familial, autosomal recessive" "4y" "not syndromic; intellectual disability with spastic paraplegia" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000307050" "04214" "00415252" "00000" "Familial, autosomal recessive" "" "OMIM: 615030; spastic paraplegia" "" "" "" "" "" "" "" "" "Spastic paraplegia type 56" "" "" "0000337245" "03811" "00448056" "01164" "Familial, autosomal recessive" "02y" "Abnormality of movement, Spastic paraparesis, Unsteady gait" "" "" "" "" "" "" "" "" "" "" "" "0000343348" "05534" "00454720" "00095" "Familial, autosomal recessive" "" "psycomotor regression, diabetes, intellectual disability, leukoencephalopathy" "1y6m" "" "" "" "" "" "" "" "" "pyruvate dehydrogenase complex deficiency" "" "0000351869" "00325" "00466506" "00006" "Familial, autosomal recessive" "15y" "see paper; ..." "" "" "" "" "" "" "" "" "SPG56" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080991" "00080879" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000132716" "00131878" "1" "02260" "02260" "2017-09-20 10:36:18" "" "" "SEQ" "DNA" "Blood" "" "0000132720" "00131884" "1" "02260" "02260" "2017-09-22 13:32:33" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000296932" "00295759" "1" "01164" "01164" "2020-03-26 12:30:27" "" "" "SEQ-NG-S" "DNA" "" "" "0000362743" "00361515" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000409652" "00408395" "1" "03468" "03468" "2022-04-20 22:45:40" "" "" "SEQ-NG" "DNA" "" "" "0000416534" "00415252" "1" "00000" "03840" "2022-08-10 20:39:58" "" "" "SEQ-NG" "DNA" "" "exome sequencing done at a commercial CAPaccredited laboratory" "0000449629" "00448056" "1" "01164" "01164" "2024-02-13 16:12:33" "" "" "SEQ-NG-I" "DNA" "" "" "0000456333" "00454720" "1" "00095" "00006" "2024-09-25 11:50:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468169" "00466506" "1" "00006" "00006" "2025-09-08 21:29:56" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000080991" "CYP2U1" "0000132716" "CYP2U1" "0000132720" "CYP2U1" "0000362743" "CYP2U1" "0000409652" "CYP2U1" "0000416534" "CYP2U1" "0000449629" "CYP2U1" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 46 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000130077" "3" "90" "4" "108866582" "108866582" "subst" "0" "01758" "CYP2U1_000001" "g.108866582A>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.107945426A>T" "" "pathogenic" "ACMG" "0000221900" "3" "90" "4" "108871413" "108871413" "subst" "0" "02260" "CYP2U1_000004" "g.108871413G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.107950257G>A" "" "pathogenic" "" "0000221906" "11" "90" "4" "108853142" "108853142" "subst" "6.62524E-6" "02260" "CYP2U1_000002" "g.108853142G>A" "" "Durand et al., in revision" "" "" "" "Germline" "yes" "" "0" "" "" "g.107931986G>A" "" "pathogenic" "" "0000274717" "0" "30" "4" "108866679" "108866679" "subst" "6.94479E-5" "01943" "CYP2U1_000007" "g.108866679T>C" "" "" "" "CYP2U1(NM_183075.2):c.1044T>C (p.D348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107945523T>C" "" "likely benign" "" "0000274718" "0" "50" "4" "108868556" "108868556" "subst" "0.00241866" "01943" "CYP2U1_000008" "g.108868556G>T" "" "" "" "CYP2U1(NM_183075.2):c.1151G>T (p.R384I, p.(Arg384Ile)), CYP2U1(NM_183075.3):c.1151G>T (p.R384I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107947400G>T" "" "VUS" "" "0000274719" "0" "30" "4" "108866274" "108866274" "subst" "0.00020724" "01943" "CYP2U1_000006" "g.108866274C>T" "" "" "" "CYP2U1(NM_183075.2):c.639C>T (p.H213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107945118C>T" "" "likely benign" "" "0000336971" "0" "10" "4" "108868515" "108868515" "subst" "0.601805" "02327" "CYP2U1_000009" "g.108868515T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107947359T>C" "" "benign" "" "0000336972" "0" "10" "4" "108871711" "108871711" "subst" "0" "02327" "CYP2U1_000010" "g.108871711G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107950555G>T" "" "benign" "" "0000344058" "0" "70" "4" "108866582" "108866582" "subst" "0" "02327" "CYP2U1_000001" "g.108866582A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107945426A>T" "" "likely pathogenic" "" "0000521138" "0" "30" "4" "108853112" "108853112" "subst" "1.34439E-5" "01804" "CYP2U1_000012" "g.108853112G>A" "" "" "" "CYP2U1(NM_183075.2):c.313G>A (p.(Val105Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107931956G>A" "" "likely benign" "" "0000521141" "0" "30" "4" "108870681" "108870681" "subst" "5.88865E-5" "01943" "CYP2U1_000015" "g.108870681A>G" "" "" "" "CYP2U1(NM_183075.2):c.1456+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107949525A>G" "" "likely benign" "" "0000608968" "0" "30" "4" "108853216" "108853216" "subst" "0" "02326" "CYP2U1_000018" "g.108853216G>T" "" "" "" "CYP2U1(NM_183075.3):c.417G>T (p.A139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107932060G>T" "" "likely benign" "" "0000608969" "0" "50" "4" "108871560" "108871560" "subst" "8.27623E-6" "02327" "CYP2U1_000019" "g.108871560T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107950404T>A" "" "VUS" "" "0000608970" "0" "50" "4" "108871574" "108871574" "subst" "3.00316E-5" "02327" "CYP2U1_000016" "g.108871574A>T" "" "" "" "CYP2U1(NM_183075.2):c.1630A>T (p.R544*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107950418A>T" "" "VUS" "" "0000621335" "0" "30" "4" "108853171" "108853171" "subst" "0.000155783" "01943" "CYP2U1_000017" "g.108853171C>T" "" "" "" "CYP2U1(NM_183075.2):c.372C>T (p.H124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107932015C>T" "" "likely benign" "" "0000655062" "0" "70" "4" "108816857" "108816857" "subst" "0" "02327" "CYP2U1_000020" "g.108816857C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107895701C>T" "" "likely pathogenic" "" "0000659584" "3" "70" "4" "108866582" "108866582" "subst" "0" "01164" "CYP2U1_000001" "g.108866582A>T" "" "" "" "" "ACMG: PM2,PM3,PP1,PP3,PP5; Tesson et al. 2012. Am 91: 1051" "Germline" "" "rs397514513" "0" "" "" "g.107945426A>T" "" "likely pathogenic" "ACMG" "0000677145" "0" "50" "4" "108866485" "108866485" "subst" "0.00183228" "01943" "CYP2U1_000021" "g.108866485T>C" "" "" "" "CYP2U1(NM_183075.2):c.850T>C (p.F284L), CYP2U1(NM_183075.3):c.850T>C (p.F284L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677146" "0" "30" "4" "108868556" "108868556" "subst" "0.00241866" "01804" "CYP2U1_000008" "g.108868556G>T" "" "" "" "CYP2U1(NM_183075.2):c.1151G>T (p.R384I, p.(Arg384Ile)), CYP2U1(NM_183075.3):c.1151G>T (p.R384I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689188" "0" "50" "4" "108871574" "108871574" "subst" "3.00316E-5" "01943" "CYP2U1_000016" "g.108871574A>T" "" "" "" "CYP2U1(NM_183075.2):c.1630A>T (p.R544*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763117" "3" "90" "4" "108866582" "108866582" "subst" "0" "00006" "CYP2U1_000001" "g.108866582A>T" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PS1, PS4, PM2, PP1, PP3" "Germline" "" "" "0" "" "" "g.107945426A>T" "" "pathogenic" "ACMG" "0000801445" "0" "30" "4" "108866372" "108866372" "subst" "0.000414375" "01943" "CYP2U1_000022" "g.108866372G>C" "" "" "" "CYP2U1(NM_183075.2):c.737G>C (p.S246T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000846846" "0" "90" "4" "108868573" "108868573" "subst" "0" "03468" "CYP2U1_000023" "g.108868573C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000859202" "0" "50" "4" "108868634" "108868634" "subst" "0" "01943" "CYP2U1_000024" "g.108868634T>G" "" "" "" "CYP2U1(NM_183075.2):c.1229T>G (p.V410G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000874662" "3" "70" "4" "108866582" "108866582" "subst" "0" "00000" "CYP2U1_000001" "g.108866582A>T" "frequency in 1500 in-house samples: 0" "{PMID:Alfares 2018:30202406}" "" "CYP2U1, NM_183075.2, c.947A>T, p.Asp316Val" "homozygous" "Unknown" "?" "" "0" "" "" "g.107945426A>T" "" "likely pathogenic" "ACMG" "0000886076" "0" "50" "4" "108868556" "108868556" "subst" "0.00241866" "02325" "CYP2U1_000008" "g.108868556G>T" "" "" "" "CYP2U1(NM_183075.2):c.1151G>T (p.R384I, p.(Arg384Ile)), CYP2U1(NM_183075.3):c.1151G>T (p.R384I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886077" "0" "30" "4" "108868556" "108868556" "subst" "0.00241866" "02326" "CYP2U1_000008" "g.108868556G>T" "" "" "" "CYP2U1(NM_183075.2):c.1151G>T (p.R384I, p.(Arg384Ile)), CYP2U1(NM_183075.3):c.1151G>T (p.R384I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924032" "0" "10" "4" "108817178" "108817178" "subst" "0.00102125" "02329" "CYP2U1_000025" "g.108817178A>C" "" "" "" "SGMS2(NM_152621.6):c.455+14A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000960063" "3" "50" "4" "108866354" "108866354" "subst" "1.21901E-5" "01164" "CYP2U1_000026" "g.108866354G>A" "" "" "" "" "ACMG: PP3_MOD, PS4_SUP, PM2_SUP" "Germline" "?" "" "" "" "" "g.107945198G>A" "VCV000989060.6" "VUS" "ACMG" "0000962963" "0" "30" "4" "108816979" "108816979" "subst" "9.7782E-5" "02329" "CYP2U1_000027" "g.108816979C>T" "" "" "" "SGMS2(NM_152621.6):c.270C>T (p.L90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962964" "0" "30" "4" "108853107" "108853107" "subst" "0.00123891" "02326" "CYP2U1_000028" "g.108853107C>T" "" "" "" "CYP2U1(NM_183075.3):c.308C>T (p.P103L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962965" "0" "30" "4" "108866627" "108866627" "subst" "0.00123763" "02326" "CYP2U1_000029" "g.108866627A>G" "" "" "" "CYP2U1(NM_183075.3):c.992A>G (p.N331S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976057" "0" "50" "4" "108866659" "108866659" "subst" "0" "01804" "CYP2U1_000030" "g.108866659T>G" "" "" "" "CYP2U1(NM_183075.3):c.1024T>G (p.(Leu342Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993999" "0" "30" "4" "108853107" "108853107" "subst" "0.00123891" "02327" "CYP2U1_000028" "g.108853107C>T" "" "" "" "CYP2U1(NM_183075.3):c.308C>T (p.P103L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994000" "0" "90" "4" "108866421" "108866424" "del" "0" "01804" "CYP2U1_000031" "g.108866421_108866424del" "" "" "" "CYP2U1(NM_183075.2):c.786_789delTCTG (p.(Cys262fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000994001" "0" "50" "4" "108871407" "108871407" "subst" "4.28791E-6" "01804" "CYP2U1_000032" "g.108871407G>A" "" "" "" "CYP2U1(NM_183075.2):c.1463G>A (p.(Arg488Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001008578" "3" "90" "4" "108868689" "108868702" "del" "0" "00095" "CYP2U1_000033" "g.108868689_108868702del" "" "{PMID:Legati 2016:26968897}" "" "" "" "Germline" "" "" "0" "" "" "g.107947533_107947546del" "" "pathogenic" "" "0001013923" "0" "50" "4" "108816919" "108816919" "subst" "4.07451E-6" "02329" "CYP2U1_000034" "g.108816919C>G" "" "" "" "SGMS2(NM_152621.6):c.210C>G (p.N70K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013924" "0" "30" "4" "108866485" "108866485" "subst" "0.00183228" "02326" "CYP2U1_000021" "g.108866485T>C" "" "" "" "CYP2U1(NM_183075.2):c.850T>C (p.F284L), CYP2U1(NM_183075.3):c.850T>C (p.F284L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034248" "0" "50" "4" "108829777" "108829777" "subst" "8.13968E-6" "01804" "CYP2U1_000035" "g.108829777G>A" "" "" "" "SGMS2(NM_001375905.1):c.784G>A (p.(Gly262Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034249" "0" "50" "4" "108871425" "108871425" "subst" "4.08003E-6" "01804" "CYP2U1_000036" "g.108871425A>G" "" "" "" "CYP2U1(NM_183075.3):c.1481A>G (p.(Gln494Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047886" "1" "90" "4" "108853141" "108853141" "subst" "0" "00006" "CYP2U1_000037" "g.108853141C>A" "" "{PMID:Saneto 2022:35775081}, {DOI:Saneto 2022:10.3389/fmolb.2022.908721}" "" "" "" "Germline" "" "" "0" "" "" "g.107931985C>A" "" "pathogenic (recessive)" "" "0001047887" "2" "90" "4" "108866636" "108866636" "del" "0" "00006" "CYP2U1_000038" "g.108866636del" "" "{PMID:Saneto 2022:35775081}, {DOI:Saneto 2022:10.3389/fmolb.2022.908721}" "" "1001delA" "" "Germline" "" "" "0" "" "" "g.107945480del" "" "pathogenic (recessive)" "" "0001051803" "0" "50" "4" "108824504" "108824504" "subst" "8.14047E-6" "01804" "CYP2U1_000039" "g.108824504C>T" "" "" "" "SGMS2(NM_001375905.1):c.689C>T (p.(Thr230Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051804" "0" "50" "4" "108866306" "108866306" "subst" "6.09503E-5" "01804" "CYP2U1_000040" "g.108866306T>C" "" "" "" "CYP2U1(NM_183075.3):c.671T>C (p.(Ile224Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051805" "0" "50" "4" "108868603" "108868603" "subst" "0" "01804" "CYP2U1_000041" "g.108868603A>G" "" "" "" "CYP2U1(NM_183075.3):c.1198A>G (p.(Met400Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CYP2U1 ## Count = 46 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Haplotype}}" "0000130077" "00006011" "90" "947" "0" "947" "0" "c.947A>T" "r.(?)" "p.(Asp316Val)" "" "" "0000221900" "00006011" "90" "1469" "0" "1469" "0" "c.1469G>A" "r.(?)" "p.(Cys490Tyr)" "5" "" "0000221906" "00006011" "90" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Gly115Ser)" "1" "" "0000274717" "00006011" "30" "1044" "0" "1044" "0" "c.1044T>C" "r.(?)" "p.(Asp348=)" "" "" "0000274718" "00006011" "50" "1151" "0" "1151" "0" "c.1151G>T" "r.(?)" "p.(Arg384Ile)" "" "" "0000274719" "00006011" "30" "639" "0" "639" "0" "c.639C>T" "r.(?)" "p.(His213=)" "" "" "0000336971" "00006011" "10" "1127" "-17" "1127" "-17" "c.1127-17T>C" "r.(=)" "p.(=)" "" "" "0000336972" "00006011" "10" "1767" "0" "1767" "0" "c.*132G>T" "r.(=)" "p.(=)" "" "" "0000344058" "00006011" "70" "947" "0" "947" "0" "c.947A>T" "r.(?)" "p.(Asp316Val)" "" "" "0000521138" "00006011" "30" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Val105Met)" "" "" "0000521141" "00006011" "30" "1456" "8" "1456" "8" "c.1456+8A>G" "r.(=)" "p.(=)" "" "" "0000608968" "00006011" "30" "417" "0" "417" "0" "c.417G>T" "r.(?)" "p.(Ala139=)" "" "" "0000608969" "00006011" "50" "1616" "0" "1616" "0" "c.1616T>A" "r.(?)" "p.(Ile539Lys)" "" "" "0000608970" "00006011" "50" "1630" "0" "1630" "0" "c.1630A>T" "r.(?)" "p.(Arg544Ter)" "" "" "0000621335" "00006011" "30" "372" "0" "372" "0" "c.372C>T" "r.(?)" "p.(His124=)" "" "" "0000655062" "00006011" "70" "-35943" "0" "-35943" "0" "c.-35943C>T" "r.(?)" "p.(=)" "" "" "0000659584" "00006011" "70" "947" "0" "947" "0" "c.947A>T" "r.(?)" "p.(Asp316Val)" "" "" "0000677145" "00006011" "50" "850" "0" "850" "0" "c.850T>C" "r.(?)" "p.(Phe284Leu)" "" "" "0000677146" "00006011" "30" "1151" "0" "1151" "0" "c.1151G>T" "r.(?)" "p.(Arg384Ile)" "" "" "0000689188" "00006011" "50" "1630" "0" "1630" "0" "c.1630A>T" "r.(?)" "p.(Arg544Ter)" "" "" "0000763117" "00006011" "90" "947" "0" "947" "0" "c.947A>T" "r.(?)" "p.(Asp316Val)" "" "" "0000801445" "00006011" "30" "737" "0" "737" "0" "c.737G>C" "r.(?)" "p.(Ser246Thr)" "" "" "0000846846" "00006011" "90" "1168" "0" "1168" "0" "c.1168C>T" "r.(1168c>u)" "p.(Arg390*)" "" "" "0000859202" "00006011" "50" "1229" "0" "1229" "0" "c.1229T>G" "r.(?)" "p.(Val410Gly)" "" "" "0000874662" "00006011" "70" "947" "0" "947" "0" "c.947A>T" "r.(?)" "p.(Asp316Val)" "" "" "0000886076" "00006011" "50" "1151" "0" "1151" "0" "c.1151G>T" "r.(?)" "p.(Arg384Ile)" "" "" "0000886077" "00006011" "30" "1151" "0" "1151" "0" "c.1151G>T" "r.(?)" "p.(Arg384Ile)" "" "" "0000924032" "00006011" "10" "-35622" "0" "-35622" "0" "c.-35622A>C" "r.(?)" "p.(=)" "" "" "0000960063" "00006011" "50" "719" "0" "719" "0" "c.719G>A" "r.(?)" "p.(Arg240His)" "" "" "0000962963" "00006011" "30" "-35821" "0" "-35821" "0" "c.-35821C>T" "r.(?)" "p.(=)" "" "" "0000962964" "00006011" "30" "308" "0" "308" "0" "c.308C>T" "r.(?)" "p.(Pro103Leu)" "" "" "0000962965" "00006011" "30" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(Asn331Ser)" "" "" "0000976057" "00006011" "50" "1024" "0" "1024" "0" "c.1024T>G" "r.(?)" "p.(Leu342Val)" "" "" "0000993999" "00006011" "30" "308" "0" "308" "0" "c.308C>T" "r.(?)" "p.(Pro103Leu)" "" "" "0000994000" "00006011" "90" "786" "0" "789" "0" "c.786_789del" "r.(?)" "p.(Cys262*)" "" "" "0000994001" "00006011" "50" "1463" "0" "1463" "0" "c.1463G>A" "r.(?)" "p.(Arg488Gln)" "" "" "0001008578" "00006011" "90" "1283" "0" "1288" "8" "c.1283_1288+8del" "r.spl" "p.?" "" "" "0001013923" "00006011" "50" "-35881" "0" "-35881" "0" "c.-35881C>G" "r.(?)" "p.(=)" "" "" "0001013924" "00006011" "30" "850" "0" "850" "0" "c.850T>C" "r.(?)" "p.(Phe284Leu)" "" "" "0001034248" "00006011" "50" "-23023" "0" "-23023" "0" "c.-23023G>A" "r.(?)" "p.(=)" "" "" "0001034249" "00006011" "50" "1481" "0" "1481" "0" "c.1481A>G" "r.(?)" "p.(Gln494Arg)" "" "" "0001047886" "00006011" "90" "342" "0" "342" "0" "c.342C>A" "r.(?)" "p.(Tyr114Ter)" "" "" "0001047887" "00006011" "90" "1001" "0" "1001" "0" "c.1001del" "r.(?)" "p.(Asn334ThrfsTer37)" "" "" "0001051803" "00006011" "50" "-28296" "0" "-28296" "0" "c.-28296C>T" "r.(?)" "p.(=)" "" "" "0001051804" "00006011" "50" "671" "0" "671" "0" "c.671T>C" "r.(?)" "p.(Ile224Thr)" "" "" "0001051805" "00006011" "50" "1198" "0" "1198" "0" "c.1198A>G" "r.(?)" "p.(Met400Val)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000080991" "0000130077" "0000132716" "0000221900" "0000132720" "0000221906" "0000296932" "0000659584" "0000362743" "0000763117" "0000409652" "0000846846" "0000416534" "0000874662" "0000449629" "0000960063" "0000456333" "0001008578" "0000468169" "0001047886" "0000468169" "0001047887"